Mutagenetix > Incidental Mutation

Incidental Mutation 'R6057:Slc48a1'

483008

Institutional Source

Beutler Lab

Gene Symbol

Slc48a1

Ensembl Gene

ENSMUSG00000081534

Gene Name

solute carrier family 48 (heme transporter), member 1

Synonyms

4930570C03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6057 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

97682246-97690573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97687798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 51 (W51R)

Ref Sequence

ENSEMBL: ENSMUSP00000112644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000117892] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000135073] [ENSMUST00000120683] [ENSMUST00000121514]

AlphaFold

Q9D8M3

Predicted Effect

probably benign
Transcript: ENSMUST00000079838

SMART Domains

Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	79	93	N/A	INTRINSIC
low complexity region	97	113	N/A	INTRINSIC
low complexity region	196	211	N/A	INTRINSIC
low complexity region	357	375	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC
low complexity region	442	454	N/A	INTRINSIC
low complexity region	485	498	N/A	INTRINSIC
Pfam:Hist_deacetyl	523	853	2.5e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088402

SMART Domains

Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	79	93	N/A	INTRINSIC
low complexity region	97	113	N/A	INTRINSIC
low complexity region	151	169	N/A	INTRINSIC
low complexity region	220	235	N/A	INTRINSIC
low complexity region	344	362	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC
low complexity region	436	448	N/A	INTRINSIC
low complexity region	479	492	N/A	INTRINSIC
Pfam:Hist_deacetyl	517	847	2.5e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116408

SMART Domains

Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
Pfam:Hist_deacetyl	495	825	2.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116409

SMART Domains

Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	359	377	N/A	INTRINSIC
low complexity region	435	447	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC
Pfam:Hist_deacetyl	532	862	9.1e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117892
AA Change: W51R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112644
Gene: ENSMUSG00000081534
AA Change: W51R

Domain	Start	End	E-Value	Type
Pfam:HRG	8	67	5.3e-11	PFAM
Pfam:HRG	71	122	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118294

SMART Domains

Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	359	377	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	444	456	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
Pfam:Hist_deacetyl	525	855	2.6e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119670

SMART Domains

Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	174	189	N/A	INTRINSIC
low complexity region	298	316	N/A	INTRINSIC
low complexity region	374	386	N/A	INTRINSIC
low complexity region	390	402	N/A	INTRINSIC
low complexity region	433	446	N/A	INTRINSIC
Pfam:Hist_deacetyl	471	801	2.3e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228466

Predicted Effect

probably benign
Transcript: ENSMUST00000135073

SMART Domains

Protein: ENSMUSP00000122485
Gene: ENSMUSG00000081534

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120683

SMART Domains

Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
Pfam:Hist_deacetyl	495	623	7.9e-9	PFAM
Pfam:Hist_deacetyl	623	777	3.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230531

Predicted Effect

probably benign
Transcript: ENSMUST00000121514

SMART Domains

Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	392	405	N/A	INTRINSIC
Pfam:Hist_deacetyl	430	760	9e-92	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	G	6: 52,156,500 (GRCm39)		probably benign	Het
Acan	A	G	7: 78,749,530 (GRCm39)	S11G	probably null	Het
Ankrd13d	A	C	19: 4,332,256 (GRCm39)	V56G	probably damaging	Het
Arl15	A	G	13: 114,104,151 (GRCm39)	Y76C	probably damaging	Het
Aspg	G	A	12: 112,087,432 (GRCm39)	C296Y	probably damaging	Het
Astl	T	A	2: 127,187,889 (GRCm39)	D101E	probably benign	Het
Bmpr2	A	G	1: 59,881,977 (GRCm39)	N202S	probably benign	Het
Borcs7	T	C	19: 46,690,003 (GRCm39)	*106Q	probably null	Het
Brip1	A	G	11: 85,955,865 (GRCm39)	S883P	possibly damaging	Het
Cacng2	A	T	15: 78,002,991 (GRCm39)	L34Q	probably damaging	Het
Catip	A	C	1: 74,402,077 (GRCm39)	D84A	probably damaging	Het
Ccdc162	A	G	10: 41,510,037 (GRCm39)	L856S	possibly damaging	Het
Ccdc38	A	G	10: 93,417,608 (GRCm39)	K500E	probably damaging	Het
Ccser2	T	C	14: 36,663,122 (GRCm39)	K21E	probably damaging	Het
Cd93	A	T	2: 148,283,439 (GRCm39)	Y636N	probably damaging	Het
Cep128	A	T	12: 91,262,998 (GRCm39)	N300K	possibly damaging	Het
Cfap44	A	G	16: 44,269,460 (GRCm39)	T1155A	probably benign	Het
Clec16a	T	C	16: 10,447,951 (GRCm39)	L550P	probably damaging	Het
Csmd3	T	C	15: 47,618,787 (GRCm39)	Y1867C	probably damaging	Het
Cul3	A	T	1: 80,249,249 (GRCm39)	I674N	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2d34	T	C	15: 82,500,552 (GRCm39)	H429R	probably benign	Het
Dab2ip	T	A	2: 35,582,267 (GRCm39)	C4*	probably null	Het
Dcaf1	A	G	9: 106,731,446 (GRCm39)	E641G	probably damaging	Het
Dda1	T	A	8: 71,927,276 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,888,960 (GRCm39)	T866I	probably benign	Het
Ect2l	T	C	10: 18,037,250 (GRCm39)	T383A	probably benign	Het
Ets2	A	G	16: 95,515,416 (GRCm39)	N181D	probably benign	Het
Ezh2	A	G	6: 47,529,357 (GRCm39)	F222L	probably damaging	Het
Frem3	T	C	8: 81,342,216 (GRCm39)	L1503P	probably damaging	Het
Fsip2	C	A	2: 82,809,777 (GRCm39)	A2032E	probably damaging	Het
Gm1818	C	T	12: 48,602,346 (GRCm39)		noncoding transcript	Het
Gm9493	A	G	19: 23,597,106 (GRCm39)	S1G	probably damaging	Het
Grin2b	A	G	6: 135,710,942 (GRCm39)	I868T	possibly damaging	Het
Ift22	A	T	5: 136,939,987 (GRCm39)	T17S	possibly damaging	Het
Il4ra	T	C	7: 125,170,735 (GRCm39)	W216R	probably damaging	Het
Kcnj6	A	T	16: 94,633,236 (GRCm39)	W274R	probably damaging	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kremen2	A	G	17: 23,961,679 (GRCm39)	V276A	probably benign	Het
Lig1	C	A	7: 13,022,598 (GRCm39)	Q143K	probably damaging	Het
Lrp1	A	T	10: 127,403,359 (GRCm39)	D2071E	probably damaging	Het
Macf1	C	T	4: 123,404,536 (GRCm39)	M475I	probably damaging	Het
Mbtd1	G	A	11: 93,820,485 (GRCm39)	A427T	probably damaging	Het
Myof	A	G	19: 37,915,429 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,470,945 (GRCm39)	D308G	possibly damaging	Het
Ncdn	T	C	4: 126,638,824 (GRCm39)	Q665R	probably benign	Het
Nkd1	T	C	8: 89,316,442 (GRCm39)		probably null	Het
Nktr	G	A	9: 121,577,455 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,167,806 (GRCm39)	M995K	possibly damaging	Het
Or10ag59	C	A	2: 87,406,363 (GRCm39)	R312S	probably benign	Het
Or11g7	A	T	14: 50,691,201 (GRCm39)	R231*	probably null	Het
Or14n1-ps1	T	A	7: 86,092,397 (GRCm39)	C69*	probably null	Het
Padi4	T	C	4: 140,487,351 (GRCm39)	T184A	probably damaging	Het
Pgm2l1	C	T	7: 99,915,881 (GRCm39)	P409S	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pgr	T	C	9: 8,902,006 (GRCm39)	L513P	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Prrc2a	T	C	17: 35,371,716 (GRCm39)	T1806A	probably benign	Het
Psd	T	C	19: 46,311,753 (GRCm39)	E309G	possibly damaging	Het
Qtrt1	C	T	9: 21,323,299 (GRCm39)	T50I	probably damaging	Het
Rims2	A	C	15: 39,538,416 (GRCm39)	T1320P	probably damaging	Het
Scn11a	T	G	9: 119,594,514 (GRCm39)	N1293T	probably damaging	Het
Scn8a	T	C	15: 100,872,548 (GRCm39)	F529S	possibly damaging	Het
Sec14l4	A	T	11: 3,985,142 (GRCm39)	D25V	possibly damaging	Het
Sema3a	C	T	5: 13,615,832 (GRCm39)	R419C	probably damaging	Het
Slc12a1	T	C	2: 125,032,133 (GRCm39)	Y595H	probably damaging	Het
Slc25a28	A	T	19: 43,655,364 (GRCm39)	H170Q	possibly damaging	Het
Slc26a1	T	A	5: 108,821,631 (GRCm39)	Q86L	probably damaging	Het
Sptlc3	T	A	2: 139,423,533 (GRCm39)	V309D	probably damaging	Het
Srcap	G	A	7: 127,140,528 (GRCm39)	S1375N	probably damaging	Het
Tanc1	C	A	2: 59,647,837 (GRCm39)	H986Q	possibly damaging	Het
Tbc1d4	A	G	14: 101,727,353 (GRCm39)	V486A	probably damaging	Het
Tceanc2	T	C	4: 107,004,776 (GRCm39)	D124G	probably damaging	Het
Tdrd9	A	G	12: 111,979,720 (GRCm39)	M402V	possibly damaging	Het
Tmem132d	T	C	5: 127,861,934 (GRCm39)	D729G	probably damaging	Het
Tmem62	T	A	2: 120,807,943 (GRCm39)	I55N	probably damaging	Het
Tnfrsf21	A	T	17: 43,350,606 (GRCm39)	N257Y	possibly damaging	Het
Trappc3	T	C	4: 126,167,834 (GRCm39)	L131P	probably damaging	Het
Vmn2r25	A	T	6: 123,799,900 (GRCm39)	M814K	possibly damaging	Het
Vmn2r87	T	C	10: 130,308,226 (GRCm39)	I671V	probably benign	Het
Vwa8	A	T	14: 79,320,313 (GRCm39)	D1108V	probably benign	Het
Xrcc4	C	G	13: 90,139,198 (GRCm39)	A241P	possibly damaging	Het
Xylt1	T	A	7: 117,191,135 (GRCm39)	D310E	probably benign	Het
Zfp27	T	G	7: 29,594,444 (GRCm39)	H507P	possibly damaging	Het
Zfp341	C	T	2: 154,466,954 (GRCm39)	P108S	probably benign	Het
Zfp641	T	C	15: 98,190,816 (GRCm39)	N76S	probably benign	Het
Zfp936	T	C	7: 42,839,787 (GRCm39)	V418A	probably benign	Het

Other mutations in Slc48a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Slc48a1	APN	15	97,687,835 (GRCm39)	missense	probably damaging	1.00
IGL02751:Slc48a1	APN	15	97,687,961 (GRCm39)	intron	probably benign
R0173:Slc48a1	UTSW	15	97,688,555 (GRCm39)	missense	possibly damaging	0.61
R5202:Slc48a1	UTSW	15	97,688,581 (GRCm39)	missense	possibly damaging	0.52
R9047:Slc48a1	UTSW	15	97,687,833 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc48a1	UTSW	15	97,688,562 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCACAGATATCACAGTCATGAG -3'
(R):5'- AAGGGTCAAGCAAGCCATCC -3'

Posted On

2017-07-14